E46D (p.Glu46Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
E46D (p.Glu46Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- rs886043183
- ClinGen CA10605210
- ClinVar RCV000262300
- TOPMed rs886043183
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.22
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available